Variant report

Variant	rs12729173
Chromosome Location	chr1:75563622-75563623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75563549..75565834-chr1:75566534..75569201,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10493561	1.00[CHB][hapmap]
rs12129029	1.00[ASN][1000 genomes]
rs12129158	1.00[ASN][1000 genomes]
rs12129193	1.00[ASN][1000 genomes]
rs12132601	1.00[ASW][hapmap];1.00[CHB][hapmap]
rs12133614	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs12138223	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs12142460	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs12723906	1.00[ASN][1000 genomes]
rs12726443	1.00[ASN][1000 genomes]
rs12732329	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs12741928	1.00[ASN][1000 genomes]
rs12750340	0.82[EUR][1000 genomes]
rs12751207	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1319656	1.00[CHB][hapmap]
rs1405312	1.00[CHB][hapmap]
rs1526502	1.00[ASN][1000 genomes]
rs1526510	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526511	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1852348	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1852349	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs188127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35453094	1.00[ASN][1000 genomes]
rs3912426	0.82[EUR][1000 genomes]
rs427227	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949821	1.00[CHB][hapmap]
rs4949838	1.00[ASW][hapmap]
rs607167	1.00[CHB][hapmap]
rs610159	1.00[CHB][hapmap]
rs6681258	1.00[ASN][1000 genomes]
rs6689348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695423	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs677470	1.00[CHB][hapmap]
rs679258	1.00[CHB][hapmap]
rs684117	1.00[CHB][hapmap]
rs71500673	1.00[ASN][1000 genomes]
rs7524020	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs795569	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75559600-75566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:75563200-75563800	Enhancers	A549	lung
3	chr1:75563600-75565200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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